ClinVar Miner

Variants with conflicting interpretations studied for Sandhoff disease

Coded as:
Minimum review status of the submission for Sandhoff disease: Collection method of the submission for Sandhoff disease:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
591 52 0 41 18 0 10 65

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Sandhoff disease pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 37 6 1 0
likely pathogenic 37 0 7 0 0
uncertain significance 6 7 0 17 1
likely benign 1 0 17 0 4
benign 0 0 1 4 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
Sandhoff disease 591 52 0 41 18 0 10 65

All variants with conflicting interpretations #

Total variants: 65
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000521.4(HEXB):c.449C>A (p.Thr150Asn) rs148268937 0.00967
NM_000521.4(HEXB):c.1051T>C (p.Leu351=) rs114661695 0.00596
NM_000521.4(HEXB):c.1082+13C>T rs201428805 0.00080
NM_000521.4(HEXB):c.1417+11C>T rs146572414 0.00062
NM_000521.4(HEXB):c.1248G>A (p.Ala416=) rs137915238 0.00035
NM_000521.4(HEXB):c.918G>C (p.Leu306=) rs140607282 0.00031
NM_000521.4(HEXB):c.1667T>C (p.Met556Thr) rs140627230 0.00016
NM_000521.4(HEXB):c.1670A>G (p.Ter557=) rs576145664 0.00016
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) rs121907984 0.00012
NM_000521.4(HEXB):c.1269A>G (p.Val423=) rs746407358 0.00006
NM_000521.4(HEXB):c.1035A>C (p.Pro345=) rs202227927 0.00005
NM_000521.4(HEXB):c.1572C>T (p.Asp524=) rs770560389 0.00005
NM_000521.4(HEXB):c.1082+5G>A rs5030731 0.00004
NM_000521.4(HEXB):c.1243-6T>C rs759404927 0.00004
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser) rs121907985 0.00004
NM_000521.4(HEXB):c.672T>C (p.Asp224=) rs761223179 0.00004
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) rs764552042 0.00003
NM_000521.4(HEXB):c.1083-14A>C rs776536464 0.00002
NM_000521.4(HEXB):c.1417+5G>A rs763517499 0.00002
NM_000521.4(HEXB):c.1165dup (p.Gln389fs) rs1749680051 0.00001
NM_000521.4(HEXB):c.1242G>A (p.Lys414=) rs1309123671 0.00001
NM_000521.4(HEXB):c.1243-2A>G rs398123446 0.00001
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser) rs762892362 0.00001
NM_000521.4(HEXB):c.146C>A (p.Ser49Ter) rs1554034452 0.00001
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln) rs121907983 0.00001
NM_000521.4(HEXB):c.156G>A (p.Pro52=) rs758965664 0.00001
NM_000521.4(HEXB):c.1598G>A (p.Arg533His) rs1291555996 0.00001
NM_000521.4(HEXB):c.1614-16_1622dup rs756912360 0.00001
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro) rs938611392 0.00001
NM_000521.4(HEXB):c.508C>T (p.Arg170Ter) rs753823903 0.00001
NM_000521.4(HEXB):c.558+5G>A rs892920643 0.00001
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp) rs373979283 0.00001
NM_000521.4(HEXB):c.965del (p.Ile322fs) rs768438206 0.00001
NM_000521.4(HEXB):c.*82_*83del rs56312827
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs) rs776476415
NM_000521.4(HEXB):c.1082G>A (p.Trp361Ter) rs1361998528
NM_000521.4(HEXB):c.1169+3_1169+10del rs398123444
NM_000521.4(HEXB):c.1294dup (p.Glu432fs) rs775920504
NM_000521.4(HEXB):c.1305_1306del (p.Arg435fs) rs779328596
NM_000521.4(HEXB):c.1345del (p.Trp449fs) rs1324338803
NM_000521.4(HEXB):c.1389C>G (p.Tyr463Ter) rs1554036943
NM_000521.4(HEXB):c.1434dup (p.Gln479fs)
NM_000521.4(HEXB):c.1509-26G>A rs201580118
NM_000521.4(HEXB):c.150C>T (p.Ala50=) rs779421706
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs) rs794727091
NM_000521.4(HEXB):c.1559_1562dup (p.Asp521fs) rs1554037129
NM_000521.4(HEXB):c.1575_1590dup (p.Arg531delinsLeuTer) rs1554037137
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr) rs778119481
NM_000521.4(HEXB):c.1611_1613+2del rs1554037170
NM_000521.4(HEXB):c.1613+14del rs754704434
NM_000521.4(HEXB):c.1613+15_1613+18dup rs779273534
NM_000521.4(HEXB):c.1640dup (p.Tyr547Ter)
NM_000521.4(HEXB):c.1652G>A (p.Cys551Tyr) rs727503961
NM_000521.4(HEXB):c.170G>A (p.Trp57Ter) rs1114167287
NM_000521.4(HEXB):c.298del (p.Arg100fs) rs886039499
NM_000521.4(HEXB):c.332G>A (p.Trp111Ter) rs1748943719
NM_000521.4(HEXB):c.341_342del (p.Glu114fs)
NM_000521.4(HEXB):c.42G>A (p.Leu14=) rs1580377030
NM_000521.4(HEXB):c.452T>A (p.Leu151Ter) rs2112135868
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter) rs573447174
NM_000521.4(HEXB):c.558+1G>C rs1198764997
NM_000521.4(HEXB):c.652ATT[1] (p.Ile219del) rs1749130533
NM_000521.4(HEXB):c.670-14_670-13del rs886060751
NM_000521.4(HEXB):c.738T>A (p.Tyr246Ter)
NM_000521.4(HEXB):c.761T>C (p.Leu254Ser) rs771103635

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